Our WES analysis ensure high standards in quality and performance
- Major clinical utility, maximized diagnostic yield in patients with rare diseases
- High-quality WES diagnostic tool: mean sequencing coverage on average 174x at guaranteed 100M sequencing reads, and ≥99.4% of base pairs (bp) covered at ≥20x
- Comprehensive, transparent and traceable analytic validation
- Improved coverage of challenging genes (eg, PKD1, RPGR [ORF 15], GBA) and identification of 1,501 clinically relevant noncoding variants
- Comprehensive and high-quality interpretation by rare disease expert team of PhD geneticists, certified geneticists and clinical consultants
- Comprehensive and customer-friendly reports
For WES with Mitochondrial genome analysis, see Expansion Service.
Who benefits from WES?
WES is most suitable for individuals with:
- Complex phenotypes with multiple differential diagnoses
- Genetically heterogeneous disorders
- Suspected genetic disorders where a specific genetic test is not available
- Inconclusive previous genetic testing
Read more: WES Family Guide
We accept blood, saliva, and isolated DNA samples. Simplified test requisition through our secure portal, Nucleus, or by paper.
Our high-quality exome capture technology and NGS methods obtain deep and uniform clinical-grade WES data.
3. Analysis and interpretation
Our proprietary automated bioinformatics processes rapidly and reliably produce clinically relevant information from the sequencing data.
4. Clinical statement
A team of geneticists and specialized clinicians interprets the results utilizing information from latest publications and databases to produce a comprehensive clinical statement. Through our online portal, clinicians have full transparent access to their individual patients’ performance and quality data. Data return in various formats (BAM and VCF) available for a fee upon request.
Whole Exome Plus
Whole Exome Plus includes high-quality Whole Exome sequence analysis of single patient cases, coupled with Whole Exome Deletion/Duplication analysis. Deletion/Duplication analysis enables detection of copy-number variants.
Whole Exome Family Plus
Whole Exome Family Plus includes high-quality Whole Exome sequence analysis of an index patient and parents (trio) or other family members, coupled with Whole Exome Deletion/Duplication analysis of the index patient. Deletion/Duplication analysis enables detection of copy-number variants. Whole Exome Family Plus is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases.
We developed Nucleus to gain, share, and build life-changing genetic knowledge.